ESPE Abstracts

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitaris...

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

Objectives: Bone mineral density is reduced in children and adolescents with inflammatory bowel disease (IBF). The exact cause of this reduction is not known and is often attributed to corticosteroid use. The aim of the study was to evaluate bone mineral density in children with IBF without previous corticosteroid exposure.Methods: Twelve children aged 8-17years with IBF (8 with Crohn's disease and 4 with ulcerative ...